CareLit · DOI-Nachweis · Zeitschrift für Gastroenterologie
Molecular characterization of the cancer-associated MLH1 mutation Asp132His
DOI 10.1055/s-2006-950893
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Nachweis in CareLit
Autor:innenC Welsch, G Plotz, M Albrecht, A Piiper, T Lengauer, S Zeuzem, J Raedle
ZeitschriftZeitschrift für Gastroenterologie
Ausgabe09/2006
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Introduction: DNA mismatch repair (MMR) is performed by heterodimers: MutSα (MSH2-MSH6) or Sβ (MSH2-MSH3) as mismatch detector and MutLα (MLH1-PMS2) or Lγ (MLH1-MLH3) for repair. Germline mutations in MLH1 and MSH2 genes are causative of Lynch syndrome (HNPCC). Recently, a novel MLH1 missense mutation was identified (D132H) and found to cause predisposition to HNPCC with a distinct phenotype. The effect of D132H and…
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Zitierempfehlung
C Welsch, G Plotz, M Albrecht, A Piiper, T Lengauer, S Zeuzem, J Raedle (2006) Molecular characterization of the cancer-associated MLH1 mutation Asp132His. Zeitschrift für Gastroenterologie (09). https://doi.org/10.1055/s-2006-950893
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